OBO ID: DOID:0070155
Term Name: hereditary sensory and autonomic neuropathy type 2A Search Ontology:
Synonyms:
  • hereditary sensory and autonomic neuropathy type IIA
  • HSAN2A
Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (2)
References:
Ontology: Human Disease   (DOID:0070155)
OTHER hereditary sensory and autonomic neuropathy type 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WNK1 Neuropathy, hereditary sensory and autonomic, type II 201300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None